{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T20:10:03Z","timestamp":1756325403631,"version":"3.44.0"},"reference-count":8,"publisher":"BMJ","issue":"12","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2023,11,22]]},"published-print":{"date-parts":[[2023,12]]},"abstract":"<jats:p>A male infant presented with progressive paleness of the body since 3\u2009months of age. On examination, the child had pallor, microcephaly with dysmorphic facies (depressed nasal bridge, low set ears, retrognathia, high arched palate and tongue hamartoma). Postaxial polydactyly in bilateral hands and feet, broad great toes, with syndactyly of left fourth and fifth toes were present. The haemogram showed severe anaemia with a microcytic hypochromic picture. High-performance liquid chromatography (HPLC) was normal. However, the parents\u2019 HPLC was suggestive of beta thalassaemia trait. Whole-exome sequencing revealed Thurston syndrome with beta-thalassaemia in homozygous pattern with a novel mutation. It is a rare genetic syndrome exclusively found in the South Asian population. Due to the rarity, identification of this syndrome is often difficult and requires awareness among clinicians. However, it is important to diagnose the disorder accurately in order to provide appropriate genetic counselling and prognostication to the parents.<\/jats:p>","DOI":"10.1136\/bcr-2022-253086","type":"journal-article","created":{"date-parts":[[2023,12,30]],"date-time":"2023-12-30T10:35:10Z","timestamp":1703932510000},"page":"e253086","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Thurston syndrome with thalassaemia: a rare case devising a novel molecular and phenotypic variation"],"prefix":"10.1136","volume":"16","author":[{"given":"Aswanth","family":"KS","sequence":"first","affiliation":[{"name":"Paediatrics, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adity","family":"Bansal","sequence":"additional","affiliation":[{"name":"Dentistry, AIIMS Deoghar, Deoghar, Jharkhand, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8929-5017","authenticated-orcid":false,"given":"Prashant Kumar","family":"Verma","sequence":"additional","affiliation":[{"name":"Paediatrics, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nowneet Kumar","family":"Bhat","sequence":"additional","affiliation":[{"name":"Paediatrics, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2023,12,30]]},"reference":[{"key":"2025082712525120000_16.12.e253086.1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32032"},{"key":"2025082712525120000_16.12.e253086.2","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1016\/j.ejmg.2017.07.009","article-title":"Confirmation that mutations in Ddx59 cause an autosomal recessive form of oral-facial-digital syndrome: further delineation of the Ddx59 phenotype in two new families","volume":"60","author":"Faily","year":"2017","journal-title":"Eur J Med Genet"},{"key":"2025082712525120000_16.12.e253086.3","doi-asserted-by":"crossref","DOI":"10.1186\/s13630-016-0034-4","article-title":"Update on oral-facial-Digital syndromes (OFDS)","volume":"5","author":"Franco","year":"2016","journal-title":"Cilia"},{"key":"2025082712525120000_16.12.e253086.4","doi-asserted-by":"crossref","first-page":"454","DOI":"10.4103\/ccd.ccd_754_20","article-title":"Oro-facial-Digital syndrome: unspecified type with the spontaneous fusion of cleft palate","volume":"12","author":"Verma","year":"2021","journal-title":"Contemp Clin Dent"},{"key":"2025082712525120000_16.12.e253086.5","doi-asserted-by":"crossref","first-page":"996","DOI":"10.1016\/S0140-6736(01)21598-0","article-title":"A case of median Hare-lip associated with other malformations","volume":"174","author":"Thurston","year":"1909","journal-title":"The Lancet"},{"key":"2025082712525120000_16.12.e253086.6","first-page":"123","article-title":"Mohr syndrome: a rare case and distinction from orofacial Digital syndrome 1","volume":"45","author":"Hosalkar","year":"1999","journal-title":"J Postgrad Med"},{"key":"2025082712525120000_16.12.e253086.7","doi-asserted-by":"crossref","first-page":"757","DOI":"10.1016\/j.tripleo.2005.08.011","article-title":"Thurston syndrome: report of a new case","volume":"101","author":"Valiathan","year":"2006","journal-title":"Oral Surg Oral Med Oral Pathol Oral Radiol Endod"},{"key":"2025082712525120000_16.12.e253086.8","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(17)31822-6"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2022-253086","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T19:53:01Z","timestamp":1756324381000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2022-253086"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,12]]},"references-count":8,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2023,12,30]]},"published-print":{"date-parts":[[2023,12]]}},"alternative-id":["10.1136\/bcr-2022-253086"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2022-253086","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2023,12]]}}}